HFE gene mutations in Brazilian thalassemic patients
| Autor: | Oliveira, T. M., Souza, F. P., Jardim, A. C. G., Cordeiro, J. A., Pinho, J. R. R., Sitnik, R., Estevão, J. F., Bonini-Domingos, C. R., Rahal, Paula [UNESP] |
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| Přispěvatelé: | Universidade Estadual Paulista (Unesp), Universidade de São Paulo (USP), Faculdade de Medicina de São José do Rio Preto (FAMERP), Hospital Israelita Albert Einstein |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Heterozygote congenital hereditary and neonatal diseases and abnormalities S65C Genotype prevalence HFE protein Ocean Engineering gene frequency Polymerase Chain Reaction alpha-Thalassemia hemoglobinopathy inheritance Humans controlled study gene mutation human H63D Fisher exact test lcsh:QH301-705.5 lcsh:R5-920 beta thalassemia beta-Thalassemia Histocompatibility Antigens Class I Membrane Proteins major clinical study clinical feature female C282Y lcsh:Biology (General) Case-Control Studies Mutation Thalassemia HFE lcsh:Medicine (General) alpha thalassemia Brazil chi square test |
| Zdroj: | Brazilian Journal of Medical and Biological Research, Vol 39, Iss 12, Pp 1575-1580 (2006) Brazilian Journal of Medical and Biological Research, Volume: 39, Issue: 12, Pages: 1575-1580, Published: 13 NOV 2006 Brazilian Journal of Medical and Biological Research v.39 n.12 2006 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| Popis: | Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:22:03Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:40:14Z : No. of bitstreams: 1 2-s2.0-33847656226.pdf: 463933 bytes, checksum: 44602f6a6287e821877ae208206bf343 (MD5) Made available in DSpace on 2014-05-27T11:22:04Z (GMT). No. of bitstreams: 0 Previous issue date: 2006-12-01 Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were 0.98, 2.38, and 0.29% for the C282Y mutation, 13.72, 13.70, and 9.54% for the H63D mutation, and 0, 0.60, and 0.87% for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers. Departamento de Biologia Instituto de Biociências Universidade do Estado de São Paulo, 15054-000 Sao Jose do Rio Preto, SP Departamento de Microbiologia Instituto de Ciências Biomédicas Universidade de São Paulo, São Paulo, SP Departamento de Gastroenterologia Faculdade de Medicina Universidade de São Paulo, São Paulo, SP Departamento de Saúde Coletiva e Epidemiologia Faculdade de Medicina de São Jose do Rio Preto, Sao Jose do Rio Preto, SP Departamento de Patologia Clínica Hospital Israelita Albert Einstein, São Paulo, SP |
| Databáze: | OpenAIRE |
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